Pediatric experts from the Third Xiangya Hospital participated in the compilation of “Expert Consensus on Diagnosis, Treatment and Management of X-Linked Hypophosphatemic Rickets in Children”

In June 2022, the Children X Expert Consensus on Diagnosis, Treatment and Management of Linked Low Phosphorus Rickets” was officially released in “Chinese Journal of Pediatrics”, Vol. 60, No. 6. This guideline is organized by 47 domestic experts in related fields organized by the Endocrine Genetic Metabolism Group of the Pediatric Branch of the Chinese Medical Association, the China Rare Disease Alliance, and the Editorial Committee of the Chinese Journal of Pediatrics. Based on practical experience, an expert consensus on the diagnosis and treatment of X-linked hypophosphatemic rickets has been formulated to provide clinicians with diagnosis and treatment guidance.

X-linked hypophosphatemic rickets is a skeletal disorder caused by mutations in the PHEX gene It is an X-linked dominant genetic disease with dental mineralization disorder, which can involve bones, muscles, teeth and other multiple systems and organs, and has a high disability rate. However, the symptoms lack specificity and are difficult to differentiate from other rickets. Diagnosis requires comprehensive analysis of medical history, symptoms and signs, biochemical tests, imaging tests, and genetic testing. There is no radical treatment for this disease, and traditional treatments (phosphate preparations and active vitamin D), broxostat, and orthopaedic treatments are mostly used in clinic. Early diagnosis and early treatment can effectively improve their prognosis and quality of life. Patients need to adhere to multidisciplinary, multi-team standardized treatment and follow-up throughout their lives.

It is reported that X-linked hypophosphatemic rickets is a rare disease. There are more than 7,000 known rare diseases, and it is estimated that the number of rare disease patients in my country can reach 30 million. Two experts participated in the compilation of the “Expert Consensus on Diagnosis, Treatment and Management of X-Linked Hypophosphatemic Rickets in Children”, which reflects the hospital’s pediatrics’ diagnosis and treatment level and disciplinary influence in the corresponding field. Professor Zhao Lingling, Professor Yang Minghua, Professor Chen Zhiheng, and Associate Professor Dai Hongmei from the Department of Pediatrics of the Third Xiangya Hospital of Central South University have accumulated years of work in the diagnosis and treatment of genetic metabolic diseases and rare diseases, and have made continuous contributions to improving the quality of life of patients with rare diseases .